Linked Data
dbSNP Id:
rs548785762
gnomAD v2:
4-86651397-G-C
gnomAD v3:
4-85730244-G-C
gnomAD v4:
4-85730244-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.85730244G>C , CM000666.2:g.85730244G>C | GRCh38 |
| NC_000004.11:g.86651397G>C , CM000666.1:g.86651397G>C | GRCh37 |
| NC_000004.10:g.86870421G>C | NCBI36 |
| NG_051627.1:g.260114G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395184.6:c.268+8272G>C MANE Select | ENSP00000378611.1:n.268+8272G>C | |
| ENST00000395184.5:c.268+8272G>C | ENSP00000378611.1:n.268+8272G>C | |
| ENST00000503995.5:c.268+8272G>C | ENSP00000423206.1:n.268+8272G>C | |
| ENST00000512201.5:c.-18+8272G>C | ENSP00000426105.1:n.-18+8272G>C | |
| NM_001025616.2:c.268+8272G>C | NP_001020787.2:n.268+8272G>C | |
| XM_005263263.3:c.268+8272G>C | XP_005263320.1:n.268+8272G>C | |
| XM_024454238.1:c.-18+8272G>C | XP_024310006.1:n.-18+8272G>C | |
| XM_024454239.1:c.-18+8272G>C | XP_024310007.1:n.-18+8272G>C | |
| NM_001025616.3:c.268+8272G>C MANE Select | NP_001020787.2:n.268+8272G>C |